MCID: LNG015
MIFTS: 47

Lingual-Facial-Buccal Dyskinesia

Categories: Neuronal diseases

Aliases & Classifications for Lingual-Facial-Buccal Dyskinesia

MalaCards integrated aliases for Lingual-Facial-Buccal Dyskinesia:

Name: Lingual-Facial-Buccal Dyskinesia 12 15 71
Orofacial Dyskinesia 29 6
Oro-Facial Dyskinesia 12
Dyskinesias 44

Classifications:



External Ids:

Disease Ontology 12 DOID:9854
ICD9CM 34 333.82
MeSH 44 D020820
SNOMED-CT 67 267689009
ICD10 32 G24.4
UMLS 71 C0152115

Summaries for Lingual-Facial-Buccal Dyskinesia

MalaCards based summary : Lingual-Facial-Buccal Dyskinesia, also known as orofacial dyskinesia, is related to tardive dyskinesia and choreoacanthocytosis, and has symptoms including spasmodic torticollis An important gene associated with Lingual-Facial-Buccal Dyskinesia is CSTB (Cystatin B), and among its related pathways/superpathways are Transmission across Chemical Synapses and Circadian entrainment. The drugs Zonisamide and Aripiprazole have been mentioned in the context of this disorder. Affiliated tissues include liver, subthalamic nucleus and tongue, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Lingual-Facial-Buccal Dyskinesia

Diseases related to Lingual-Facial-Buccal Dyskinesia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 283)
# Related Disease Score Top Affiliating Genes
1 tardive dyskinesia 32.7 HTR2A DRD3
2 choreoacanthocytosis 30.5 VPS13A PANK2 KEL
3 tic disorder 30.2 SLC6A3 SLC18A2 HTR2A DRD3 CNTNAP2
4 episodic ataxia 30.1 LGI1 KCNC3 CNTNAP2
5 amnestic disorder 30.0 LGI1 GRIN2B CNTNAP2
6 parkinson disease, late-onset 30.0 SLC6A3 SLC18A2 PPP1R1B KCNC3 HTR2C HTR2A
7 movement disease 29.9 VPS13A SLC6A3 SLC18A2 PANK2 LGI1 GNAO1
8 pathological gambling 29.9 SLC6A3 HTR2A DRD3
9 impulse control disorder 29.9 SLC6A3 HTR2C HTR2A GRIN2B DRD3
10 eating disorder 29.9 SLC6A3 HTR2C DRD3
11 anxiety 29.9 SLC6A3 HTR2C HTR2A GRIN2B
12 limbic encephalitis 29.8 PNMA2 LGI1 GRIN2B CNTNAP2
13 psychotic disorder 29.8 SLC6A3 SLC18A2 HTR2C HTR2A GRIN2B DRD3
14 migraine with or without aura 1 29.8 SLC6A3 SLC20A2 HTR2C HTR2A GRIN2B DRD3
15 benign epilepsy with centrotemporal spikes 29.8 LGI1 GRIN2B GRIN1 CSTB CNTNAP2
16 speech disorder 29.7 SLC6A3 GRIN2B CNTNAP2
17 epilepsy 29.5 SLC6A3 LGI1 GRIN2B GRIN1 GNAO1 CSTB
18 mutism 29.5 SLC6A3 PNMA2 LGI1 GRIN1 CNTNAP2
19 obsessive-compulsive disorder 29.5 SLC6A3 HTR2C HTR2A GRIN2B DRD3 CNTNAP2
20 alcohol dependence 29.4 SLC6A3 SLC18A2 HTR2C HTR2A GRIN2B GRIN1
21 gilles de la tourette syndrome 29.4 SLC6A3 SLC18A2 HTR2A DRD3 CNTNAP2
22 dystonia 29.4 WDR73 VPS13A SLC6A3 SLC20A2 SLC18A2 PANK2
23 attention deficit-hyperactivity disorder 29.1 SLC6A3 SLC18A2 PPP1R1B HTR2C HTR2A GRIN2B
24 autism 29.1 SLC6A3 PPP1R1B HTR2C HTR2A GRIN2B GRIN1
25 autism spectrum disorder 28.9 SLC6A3 PPP1R1B KCNN2 HTR2C HTR2A GRIN2B
26 schizophrenia 28.8 SLC6A3 SLC18A2 PPP1R1B HTR2C HTR2A GRIN2B
27 choreatic disease 28.6 VPS13A SLC6A3 SLC20A2 SLC18A2 PPP1R1B PNMA2
28 dyskinesia, limb and orofacial, infantile-onset 11.6
29 paroxysmal dyskinesia 11.3
30 spinocerebellar ataxia 27 11.1
31 myopathy with extrapyramidal signs 11.1
32 paroxysmal exertion-induced dyskinesia 11.0
33 parkinson disease 14, autosomal recessive 10.9
34 developmental and epileptic encephalopathy 11 10.9
35 combined oxidative phosphorylation deficiency 13 10.9
36 basal ganglia calcification, idiopathic, 5 10.9
37 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 10.9
38 mitochondrial dna depletion syndrome 19 10.9
39 high pressure neurological syndrome 10.4 HTR2C GRIN1
40 hypoactive sexual desire disorder 10.3 HTR2C HTR2A
41 inhibited male orgasm 10.3 SLC6A3 HTR2C
42 autosomal dominant non-syndromic intellectual disability 6 10.3 GRIN2B GRIN1
43 psychosexual disorder 10.3 HTR2C HTR2A
44 intermittent explosive disorder 10.3 HTR2C HTR2A
45 episodic kinesigenic dyskinesia 1 10.3
46 cerebellopontine angle meningioma 10.3 LGI1 CNTNAP2
47 kleine-levin hibernation syndrome 10.3 SLC6A3 PNMA2
48 cyclothymic disorder 10.3 HTR2C HTR2A
49 autoimmune encephalitis 10.3 LGI1 CNTNAP2
50 recurrent hypersomnia 10.3 SLC6A3 PNMA2

Graphical network of the top 20 diseases related to Lingual-Facial-Buccal Dyskinesia:



Diseases related to Lingual-Facial-Buccal Dyskinesia

Symptoms & Phenotypes for Lingual-Facial-Buccal Dyskinesia

UMLS symptoms related to Lingual-Facial-Buccal Dyskinesia:


spasmodic torticollis

MGI Mouse Phenotypes related to Lingual-Facial-Buccal Dyskinesia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 CNTNAP2 CSTB DRD3 GNAO1 GRIN1 GRIN2B
2 growth/size/body region MP:0005378 10.13 CNTNAP2 CSTB DRD3 GNAO1 GRIN1 GRIN2B
3 homeostasis/metabolism MP:0005376 10.1 CSTB DRD3 GNAO1 GRIN1 GRIN2B HTR2C
4 nervous system MP:0003631 9.86 CNTNAP2 CSTB DRD3 GNAO1 GRIN1 GRIN2B
5 muscle MP:0005369 9.76 CSTB HTR2A HTR2C KCNC3 KEL PANK2
6 taste/olfaction MP:0005394 8.92 CNTNAP2 GRIN1 SLC18A2 SLC6A3

Drugs & Therapeutics for Lingual-Facial-Buccal Dyskinesia

Drugs for Lingual-Facial-Buccal Dyskinesia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 132)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
2
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
3
Carbidopa Approved Phase 4 28860-95-9 34359
4
Levetiracetam Approved Phase 4 102767-28-2 441341
5
Amantadine Approved Phase 4 768-94-5 2130
6
Rotigotine Approved Phase 4 99755-59-6, 92206-54-7 57537
7
Galantamine Approved Phase 4 357-70-0 9651
8
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585 135398745
9
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
10
Amisulpride Approved, Investigational Phase 4 71675-85-9, 53583-79-2 2159
11
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
12
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
13 calcium channel blockers Phase 4
14 Serotonin 5-HT1 Receptor Agonists Phase 4
15 Immunologic Factors Phase 4
16 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
17 Adjuvants, Immunologic Phase 4
18 Carbidopa, levodopa drug combination Phase 4
19 Analgesics, Non-Narcotic Phase 4
20 Anti-Infective Agents Phase 4
21 Antiviral Agents Phase 4
22 Analgesics Phase 4
23 Dopamine Antagonists Phase 4
24 Antidepressive Agents Phase 4
25 Cholinesterase Inhibitors Phase 4
26 Serotonin Uptake Inhibitors Phase 4
27 Antiemetics Phase 4
28 Omega 3 Fatty Acid Phase 4
29 Neurotransmitter Agents Phase 4
30 Nicotinic Agonists Phase 4
31 abobotulinumtoxinA Phase 4
32 Botulinum Toxins, Type A Phase 4
33 Botulinum Toxins Phase 4
34 Cholinergic Agents Phase 4
35
Ropinirole Approved, Investigational Phase 3 91374-20-8, 91374-21-9 5095 497540
36
Tetrabenazine Approved, Investigational Phase 3 58-46-8 6018
37
Piracetam Approved, Investigational Phase 3 7491-74-9
38 Neuroprotective Agents Phase 3
39 Cardiac Glycosides Phase 3
40 Ginkgo Phase 3
41
Amitriptyline Approved Phase 2 50-48-6 2160
42
Perphenazine Approved Phase 2 58-39-9 4748
43
Oxymetazoline Approved, Investigational Phase 2 1491-59-4 4636
44
Phenylephrine Approved Phase 2 59-42-7 6041
45
Entacapone Approved, Investigational Phase 2 130929-57-6 5281081
46
Nicotine Approved Phase 1, Phase 2 54-11-5 942 89594
47
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
48
Dextromethorphan Approved Phase 2 125-71-3 5360696 5362449
49
Quinidine Approved, Investigational Phase 2 56-54-2 441074
50
Acamprosate Approved, Investigational Phase 2 77337-76-9 71158

Interventional clinical trials:

(show top 50) (show all 219)
# Name Status NCT ID Phase Drugs
1 An Open-Label Tolerability and Exploratory Efficacy Study of Zonisamide for Dyskinesias in Parkinson's Disease Unknown status NCT03034538 Phase 4 Zonegran;Zonegran
2 The Monitor of Serum Prolactin Level and Related Clinical Observations Among Individuals With Schizophrenia Spectrum Illnesses in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4 Aripiprazole
3 Aripiprazole for Pre-Existing Neuroleptic-Induced Tardive Dyskinesia: a Prospective 26-Week Observational Study Unknown status NCT00837707 Phase 4 aripiprazole
4 A Multicenter, Open-Label, Two-Arm Study to Evaluate the Impact of Using Wearable Devices in Addition to Standard Clinical Practice on Parkinson´s Subject Symptoms Management Completed NCT03103919 Phase 4 Rotigotine
5 Efficacy and Safety of Levetiracetam Versus Placebo on Levodopa-induced Dyskinesias in Advanced Parkinson's Disease (LeLeDys Study) - A Multicenter, Randomized, Stratified, Double-blinded, Placebo-controlled Phase IV Study Completed NCT00307450 Phase 4 Levetiracetam
6 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4 levodopa/carbidopa
7 Treatment of Tardive Dyskinesia With Galantamine Completed NCT00164242 Phase 4 Galantamine
8 A Double-Blind, Randomised, Parallel-Group Comparison of Ethyl-Eicosapentaenoic Acid (Ethyl-EPA) Versus Placebo as Add-on Medication in Patients With Established Tardive Dyskinesia Completed NCT00114595 Phase 4 eicosapentaenoic acid
9 A Randomized Controlled Trial of Risperidone and Olanzapine for the Schizophrenic Patients With Neuroleptic-Induced Tardive Dyskinesia Completed NCT00621998 Phase 4 risperidone;olanzapine
10 A Phase 4, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Potential for Clinical Dependence and Withdrawal Symptoms Associated With Valbenazine Completed NCT03698331 Phase 4 Valbenazine;Placebo oral capsule
11 Tardive Dyskinesia and Cognitive Function Completed NCT00926965 Phase 4 amisulpride;Olanzapine;Conventional antipsychotics
12 Validation of Dyskinesia Rating Scales Completed NCT01071395 Phase 4 Amantadine;Placebo
13 A Long-term Health Economics Study of Intraduodenal Levodopa (Duodopa®) in Routine Care for Patients With Advanced Idiopathic Parkinson's Disease With Severe Motor Fluctuations and Hyper-/Dyskinesia Completed NCT00141518 Phase 4 Levodopa-carbidopa intestinal gel (LCIG)
14 Evaluation of the Long-term Effects of Amantadine in Parkinsonian's Suffering From Dyskinesia Induced by Levodopa: Study Randomised Double-blind, Placebo - Cessation of a Chronic Prescription. STUDY AMANDYSK. Completed NCT00632762 Phase 4 mantadix
15 A Phase 4, Double-Blind, Placebo-Controlled, Randomized Withdrawal Study to Evaluate the Persistence of Effect and Safety of Valbenazine for the Treatment of Tardive Dyskinesia Recruiting NCT03891862 Phase 4 Valbenazine;Placebo oral capsule
16 Effect of Varenicline on Smoking Cessation in Patients With Schizophrenia: Evaluation of Antipsychotic Drug-Induced Neurological Symptoms as Correlates of Response Recruiting NCT03495024 Phase 4 Varenicline
17 Botulinum Toxin Type A (Botox) in the Management of Levodopa-Induced Peak-Dose Dyskinesias in Parkinson's Disease: A Double-Blind, Randomized, Placebo Controlled, Cross-Over Design Study Terminated NCT00477802 Phase 4
18 Open Label Prospective Study of High Dose Ropinirole for Motor Fluctuations and Dyskinesias in Advanced Parkinson's Disease Unknown status NCT00260793 Phase 3 Ropinirole Hydrochloride
19 Buspirone Treatment of Iatrogenic Dyskinesias in Advanced Parkinson' Disease. Multicenter, International, Placebo-controlled, Randomised, Double Blind Trial Unknown status NCT02617017 Phase 3 Buspirone;Placebo
20 An Open-label, Randomized 12 Week Study Comparing Efficacy of Levodopa-Carbidopa Intestinal Gel/Carbidopa-Levodopa Enteral Suspension and Optimized Medical Treatment on Dyskinesia in Subjects With Advanced Parkinson's Disease DYSCOVER (DYSkinesia COmparative Interventional Trial on Duodopa VERsus Oral Medication) Completed NCT02799381 Phase 3 Optimized antiparkinsonian treatment;Levodopa-Carbidopa Intestinal Gel (LCIG)
21 Open-Label, 12-Month Safety and Efficacy Study of Levodopa - Carbidopa Intestinal Gel in Levodopa-Responsive Parkinson's Disease Subjects Completed NCT00360568 Phase 3 Levodopa-carbidopa intestinal gel
22 Extended Release Amantadine Safety and Efficacy Study in Levodopa-Induced Dyskinesia (EASED Study) Completed NCT01397422 Phase 2, Phase 3 ADS-5102 (extended release amantadine HCl)
23 Open-Label Rollover Study for Continuing Valbenazine (NBI-98854) Administration for the Treatment of Tardive Dyskinesia Completed NCT02736955 Phase 3 Valbenazine
24 Levetiracetam Treatment of Tardive Dyskinesia Completed NCT00291213 Phase 3 levetiracetam;placebo
25 Efficacy and Safety of ADS-5102 (Amantadine HCl) Extended Release Capsules for the Treatment of Levodopa Induced Dyskinesia in Parkinson's Disease Patients (EASE LID Study) Completed NCT02136914 Phase 3 ADS-5102
26 Therapeutic Use of Piracetam for Treatment of Patients Suffering From Tardive Dyskinesia: a Double Blind, Placebo-Controlled Crossover Study Completed NCT00190008 Phase 3 piracetam
27 A Double-Blind, Randomised, Parallel-Group Comparison of Extract of Ginkgo Biloba(EGB-761) Versus Placebo as Add-on Medication in Patients With Established Tardive Dyskinesia Completed NCT00672373 Phase 3 Extract of Ginkgo Biloba (EGb-761 capsules);Placebo
28 Study of Efficacy and Acceptability of Tetrabenazine in the Late Dyskinetic Syndrome With Neuroleptics: A Randomized, Parallel Group, Double-blind Placebo Controlled Multicentre Trial Completed NCT01543321 Phase 3 Tetrabenazine;Placebo
29 A Phase 3, Open-Label, Safety and Tolerability Study of NBI-98854 for the Treatment of Tardive Dyskinesia Completed NCT02405091 Phase 3 NBI-98854
30 A Randomized, Double-Blind, Placebo-Controlled, Fixed-Dose Study of SD-809 (Deutetrabenazine) for the Treatment of Moderate to Severe Tardive Dyskinesia Completed NCT02291861 Phase 3 SD-809;Placebo
31 ADS-5102 (Amantadine HCl) Extended Release Efficacy and Safety Study in Parkinson's Disease Patients With Levodopa-Induced Dyskinesia (EASE LID 3 Study) Completed NCT02274766 Phase 3 ADS-5102
32 A Randomized, Double-Blind, Placebo-Controlled Study of SD-809 (Deutetrabenazine) for the Treatment of Moderate to Severe Tardive Dyskinesia Completed NCT02195700 Phase 2, Phase 3 SD-809;Placebo
33 A Double-Blind, Randomized, Multicenter, Placebo-Controlled, Parallel, Fixed-Dose Study to Evaluate the Efficacy and Safety of MT-5199 for the Treatment in Patients With Tardive Dyskinesia (J-KINECT) Completed NCT03176771 Phase 2, Phase 3 MT-5199;Placebo
34 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Parallel, Fixed-Dose Study to Assess the Efficacy, Safety, and Tolerability of NBI-98854 for the Treatment of Tardive Dyskinesia Completed NCT02274558 Phase 3 NBI-98854;Placebo
35 Open-Label Safety Study of ADS-5102 (Amantadine HCl) Extended Release Capsules for the Treatment of Levodopa Induced Dyskinesia (LID) Completed NCT02202551 Phase 3 ADS-5102
36 A Two Year Phase IIIb Randomised, Multicenter, Double-blind, SINEMET Controlled, Parallel Group, Flexible Dose Study, to Assess the Effectiveness of Controlled Release Ropinirole add-on Therapy to L-dopa at Increasing the Time to Onset of Dyskinesia in Parkinson's Disease Subjects. Completed NCT00363727 Phase 3 ropinirole controlled-release (REQUIP CR) for RLS
37 A Double-Blind, Placebo-Controlled, Multicenter, Multinational Phase III Study to Evaluate the Safety and Efficacy of Sarizotan in Patients With Parkinson's Disease Suffering From Treatment-Associated Dyskinesia Completed NCT00105521 Phase 3 Sarizotan;Placebo
38 A Double-blind, Placebo-controlled, Multicenter, Multinational Phase III Study to Evaluate the Safety and Efficacy of Sarizotan HCl 1 mg b.i.d. in Patients With Parkinson's Disease Suffering From Treatment-associated Dyskinesia Completed NCT00105508 Phase 3 Sarizotan;Placebo
39 Long Term Aerobic Exercise to Slow Progression in Parkinson's Disease Recruiting NCT03808675 Phase 2, Phase 3
40 A Randomized, Double-Blind, Placebo-Controlled Study of TEV-50717 (Deutetrabenazine) for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents Recruiting NCT03813238 Phase 3 Deutetrabenazine;Placebo
41 An Open-Label, Long-Term Safety, Tolerability, and Efficacy Study of TEV-50717 (Deutetrabenazine) for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents (Open RECLAIM-DCP) Recruiting NCT04200352 Phase 3 TEV-50717
42 An Open-Label, Long-Term Safety Study of SD-809 (Deutetrabenazine) for the Treatment of Moderate to Severe Tardive Dyskinesia Active, not recruiting NCT02198794 Phase 3 SD-809;Placebo
43 A Multicenter, Randomized, Placebo-controlled, Double-blind, 16 Week Study to Evaluate the Efficacy and Safety of Amantadine HCl Extended Release Tablets in Parkinson's Disease Subjects With Levodopa-Induced Dyskinesias Terminated NCT02153645 Phase 3 240mg Amantadine HCl ER tablets;Placebo tablets;320mg Amantadine HCl ER tablets
44 A Multicenter, Randomized, Placebo-controlled, Double-blind, 26 Week Study to Evaluate the Efficacy and Safety of Amantadine HCl Extended Release Tablets in Parkinson's Disease Subjects With Levodopa-Induced Dyskinesias Terminated NCT02153632 Phase 3 amantadine HCl ER;Placebo
45 A Phase 3, Double-blind, Placebo-controlled, Parallel-group Study to Assess the Efficacy and Safety of 2 Doses of Safinamide Compared to Placebo in the Treatment of LID in PD Patients With Motor Fluctuations Withdrawn NCT03987750 Phase 3 Safinamide Methanesulfonate 150mg;Safinamide Methanesulfonate 100mg;Safinamide Methanesulfonate matching placebo
46 Safety and Efficacy of Propranolol in the Treatment of Tardive Dyskinesia Withdrawn NCT03254186 Phase 2, Phase 3 Propranolol Hydrochloride;Placebo Oral Tablet
47 Pyridoxal Kinase Activity in Schizophrenia Patients Without Versus With Tardive Dyskinesia Treated With Vitamin B6 Withdrawn NCT01908452 Phase 3 Pyridoxine
48 Levetiracetam Administration for the Management of Levodopa-Induced Dyskinesias in Parkinson's Disease: A Double-Blind,Placebo-Controlled, Crossover Trial Unknown status NCT00291733 Phase 2 Levetiracetam;Placebo
49 Randomized, Double-Blind, Placebo-Controlled Trial on the Efficacy of Omega-3 Supplementation With Docosahexaenoic Acid (DHA) on Tardive Dyskinesia Unknown status NCT00621634 Phase 2
50 Randomized Controlled Trial of Laparoscopic Cholecystectomy vs. Non-operative Treatment for Gallbladder Dyskinesia Unknown status NCT02195115 Phase 2 amitriptyline

Search NIH Clinical Center for Lingual-Facial-Buccal Dyskinesia

Cochrane evidence based reviews: dyskinesias

Genetic Tests for Lingual-Facial-Buccal Dyskinesia

Genetic tests related to Lingual-Facial-Buccal Dyskinesia:

# Genetic test Affiliating Genes
1 Orofacial Dyskinesia 29

Anatomical Context for Lingual-Facial-Buccal Dyskinesia

MalaCards organs/tissues related to Lingual-Facial-Buccal Dyskinesia:

40
Liver, Subthalamic Nucleus, Tongue, Caudate Nucleus, Skin, Ovary, Globus Pallidus

Publications for Lingual-Facial-Buccal Dyskinesia

Articles related to Lingual-Facial-Buccal Dyskinesia:

(show top 50) (show all 272)
# Title Authors PMID Year
1
Naringin Ameliorates Haloperidol-Induced Neurotoxicity and Orofacial Dyskinesia in a Rat Model of Human Tardive Dyskinesia. 61
33523404 2021
2
SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia. 61
33452934 2021
3
Orofacial dyskinesia post resection of pineal gland tumor. 61
33391638 2020
4
Effects of CATECHIN on reserpine-induced vacuous chewing movements: behavioral and biochemical analysis. 61
32725283 2020
5
Crushing deutetrabenazine for treatment of tardive dyskinesia in a patient with severe orofacial symptoms: A case report. 61
32761113 2020
6
Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis. 61
32151030 2020
7
Resolution of tardive tremor after bilateral subthalamic nucleus deep brain stimulation placement. 61
33408929 2020
8
Frontotemporal brain sagging syndrome: Craniospinal hypovolemia secondary to a T6-T7 cerebrospinal fluid-venous fistula. 61
32905237 2020
9
[Acute neuropsychiatry: a confused patient and a puzzled doctor]. 61
32073794 2019
10
Influence of magnesium supplementation and L-type calcium channel blocker on haloperidol-induced movement disturbances. 61
31374223 2019
11
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia. 61
31388109 2019
12
Orofacial Dyskinesia in a Young Man. 61
31545336 2019
13
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. 61
31165786 2019
14
18F-FDG PET/CT: an unexpected case of Huntington's disease. 61
31043171 2019
15
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review. 61
30642806 2019
16
Anti-N-methyl-d-aspartate receptor encephalitis during pregnancy: A case report. 61
30788880 2019
17
Severe tooth loss secondary to orofacial dyskinesias in anti-NMDA receptor encephalitis. 61
30846455 2019
18
Clinical Profile and Neuropsychiatric Outcome in Children with Anti-NMDAR Encephalitis. 61
30955001 2019
19
A review for the pharmacological effect of lycopene in central nervous system disorders. 61
30616078 2019
20
Possible nitric oxide mechanism involved in the protective effect of L-theanine on haloperidol-induced orofacial dyskinesia. 61
30942195 2019
21
Infectious Trigger for Autoimmune Encephalitis: A Case Report and Literature Review. 61
31781432 2019
22
TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly. 61
29758293 2018
23
Protective effect of hesperetin against haloperidol-induced orofacial dyskinesia and catalepsy in rats. 61
28641484 2018
24
Cannabidiol prevents haloperidol-induced vacuos chewing movements and inflammatory changes in mice via PPARγ receptors. 61
30217539 2018
25
Effect of Biperiden Treatment in Acute Orofacial and Extremity Dyskinesia With Methylphenidate Therapy. 61
28328695 2018
26
L-Theanine Decreases Orofacial Dyskinesia Induced by Reserpine in Rats. 61
29629512 2018
27
Anti-NMDA receptor encephalitis: still unknown and underdiagnosed by physicians and especially by psychiatrists? 61
29050531 2018
28
Dexmethylphenidate Extended Release-Associated Orofacial Dyskinesia in an Adolescent with Autism Spectrum Disorder After Prolonged Use. 61
29781724 2018
29
Acute-onset Orofacial Dyskinesia with a Single Low Dose of Oral Flupentixol: A Case Report. 61
29962578 2018
30
Pediatric NMDAR encephalitis: A single center observation study with a closer look at movement disorders. 61
29396169 2018
31
Protective Effect of L-Theanine on Haloperidol-Induced Orofacial. 61
29374957 2018
32
A review of the outcome of dental implant provision in individuals with movement disorders. 61
30109299 2018
33
Management of Refractory Orofacial Dyskinesia Caused by Anti-N-methyl-d-aspartate Receptor Encephalitis Using Botulinum Toxin. 61
29520252 2018
34
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial. 61
30169182 2017
35
Resveratrol Protects Against Vacuous Chewing Movements Induced by Chronic Treatment with Fluphenazine. 61
28744755 2017
36
An unusual case of refractory status epilepticus in a young lady: anti-NMDA receptor encephalitis. 61
28974594 2017
37
Serial EEG Monitoring in a Patient With Anti-NMDA Receptor Encephalitis. 61
27821481 2017
38
Behavioral and neurochemical effects of alpha lipoic acid associated with omega-3 in tardive dyskinesia induced by chronic haloperidol in rats. 61
28329449 2017
39
[Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia]. 61
28561176 2017
40
Influence of magnesium supplementation on movement side effects related to typical antipsychotic treatment in rats. 61
27816557 2017
41
Clozapine-Induced Microseizures, Orofacial Dyskinesia, and Speech Dysfluency in an Adolescent with Treatment Resistant Early Onset Schizophrenia on Concurrent Lithium Therapy. 61
28835863 2017
42
Brain Calcification and Movement Disorders. 61
28097511 2017
43
Methylmalonic Acidemia with Novel MUT Gene Mutations. 61
29158924 2017
44
Ginkgo biloba leaf extract and alpha-tocopherol attenuate haloperidol-induced orofacial dyskinesia in rats: Possible implication of antiapoptotic mechanisms by preventing Bcl-2 decrease and Bax elevation. 61
27823630 2016
45
NMDA-receptor associated encephalitis in a woman with mature cystic ovarian teratoma. 61
29733562 2016
46
Crocin prevents haloperidol-induced orofacial dyskinesia: possible an antioxidant mechanism. 61
27872703 2016
47
Anti-collapsin response mediator protein 5 encephalitis masquerading as a low-grade brain tumour. 61
27247429 2016
48
Agmatine attenuates reserpine-induced oral dyskinesia in mice: Role of oxidative stress, nitric oxide and glutamate NMDA receptors. 61
27306571 2016
49
Plasmodium falciparum and Mycoplasma pneumoniae co-infection presenting with cerebral malaria manifesting orofacial dyskinesia and haemophagocytic lymphohistiocytosis. 61
27609213 2016
50
Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up. 61
27310290 2016

Variations for Lingual-Facial-Buccal Dyskinesia

ClinVar genetic disease variations for Lingual-Facial-Buccal Dyskinesia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CSTB NM_000100.3(CSTB):c.67-1G>C SNV Pathogenic 8395 rs147484110 21:45194641-45194641 21:43774760-43774760
2 KCNN2 NM_021614.4(KCNN2):c.1931T>C (p.Leu644Pro) SNV Pathogenic 933149 5:113822787-113822787 5:114487090-114487090
3 WDR73 NM_032856.5(WDR73):c.42-1G>C SNV Pathogenic 812997 rs1596057578 15:85196931-85196931 15:84653700-84653700
4 CSTB NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) SNV Pathogenic 8396 rs74315442 21:45194178-45194178 21:43774297-43774297
5 GNAO1 NM_020988.3(GNAO1):c.545C>T (p.Thr182Ile) SNV Likely pathogenic 812779 rs1596871452 16:56368721-56368721 16:56334809-56334809
6 GNAO1 NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) SNV Likely pathogenic 420523 rs1064794533 16:56370758-56370758 16:56336846-56336846
7 HERC2 NM_004667.5(HERC2):c.5045A>G (p.Asn1682Ser) SNV Uncertain significance 599009 rs140073033 15:28474681-28474681 15:28229535-28229535
8 RYR1 NM_000540.2(RYR1):c.1312G>C (p.Glu438Gln) SNV Uncertain significance 599010 rs765668209 19:38943526-38943526 19:38452886-38452886

Expression for Lingual-Facial-Buccal Dyskinesia

Search GEO for disease gene expression data for Lingual-Facial-Buccal Dyskinesia.

Pathways for Lingual-Facial-Buccal Dyskinesia

Pathways related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 SLC6A3 SLC18A2 KCNN2 KCNC3 GRIN2B GRIN1
2
Show member pathways
12.37 SLC6A3 SLC18A2 PPP1R1B GRIN2B GRIN1 GNAO1
3 12.34 PPP1R1B GRIN2B GRIN1 GNAO1 CNTNAP2
4 12.01 PPP1R1B KCNC3 GRIN2B GRIN1 DRD3
5
Show member pathways
11.71 HTR2C HTR2A DRD3
6
Show member pathways
11.66 SLC18A2 PPP1R1B DRD3
7
Show member pathways
11.59 PPP1R1B GRIN2B GRIN1
8
Show member pathways
11.43 SLC6A3 SLC18A2 PPP1R1B GRIN2B GRIN1
9 11.08 SLC18A2 KCNN2 HTR2C HTR2A GNAO1
10 10.99 SLC18A2 HTR2C HTR2A
11
Show member pathways
10.86 SLC6A3 SLC18A2 DRD3
12 10.85 GRIN2B GRIN1
13 10.81 HTR2C HTR2A

GO Terms for Lingual-Facial-Buccal Dyskinesia

Cellular components related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.42 VPS13A SLC6A3 SLC20A2 SLC18A2 PANK2 KEL
2 plasma membrane GO:0005886 10.3 SLC6A3 SLC20A2 SLC18A2 KEL KCNN2 KCNC3
3 integral component of membrane GO:0016021 10.27 SLC6A3 SLC20A2 SLC18A2 PANK2 KEL KCNN2
4 cell junction GO:0030054 9.95 LGI1 KCNC3 HTR2A GRIN2B GRIN1 CNTNAP2
5 cell surface GO:0009986 9.89 SLC6A3 KCNN2 GRIN2B GRIN1 CNTNAP2
6 integral component of plasma membrane GO:0005887 9.86 SLC6A3 SLC20A2 SLC18A2 HTR2C HTR2A GRIN2B
7 glutamatergic synapse GO:0098978 9.84 PPP1R1B LGI1 HTR2A DRD3
8 neuron projection GO:0043005 9.77 SLC6A3 KCNN2 GRIN2B GRIN1 GNAO1
9 neuronal cell body GO:0043025 9.72 SLC6A3 PPP1R1B KCNN2 HTR2A CNTNAP2
10 synaptic cleft GO:0043083 9.51 LGI1 GRIN1
11 synapse GO:0045202 9.5 LGI1 KCNC3 HTR2C HTR2A GRIN2B GRIN1
12 NMDA selective glutamate receptor complex GO:0017146 9.43 GRIN2B GRIN1
13 dopaminergic synapse GO:0098691 9.4 SLC6A3 SLC18A2
14 G protein-coupled serotonin receptor complex GO:0098666 9.16 HTR2C HTR2A
15 dendrite GO:0030425 9.1 KCNC3 HTR2C HTR2A GRIN1 GNAO1 CNTNAP2

Biological processes related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.85 SLC6A3 HTR2C HTR2A GNAO1 DRD3
2 social behavior GO:0035176 9.7 VPS13A DRD3 CNTNAP2
3 visual learning GO:0008542 9.67 PPP1R1B GRIN1 DRD3
4 response to ethanol GO:0045471 9.67 SLC6A3 GRIN2B GRIN1 DRD3
5 response to cocaine GO:0042220 9.65 SLC6A3 PPP1R1B DRD3
6 behavior GO:0007610 9.6 HTR2C HTR2A
7 protein heterotetramerization GO:0051290 9.59 GRIN2B GRIN1
8 prepulse inhibition GO:0060134 9.58 SLC6A3 DRD3
9 negative regulation of synaptic transmission, glutamatergic GO:0051967 9.58 HTR2A DRD3
10 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.57 GRIN2B GRIN1
11 excitatory chemical synaptic transmission GO:0098976 9.56 GRIN2B GRIN1
12 cellular calcium ion homeostasis GO:0006874 9.56 KEL HTR2C HTR2A DRD3
13 monoamine transport GO:0015844 9.55 SLC6A3 SLC18A2
14 chemical synaptic transmission GO:0007268 9.55 SLC18A2 HTR2C HTR2A GRIN2B GRIN1
15 calcium ion transmembrane import into cytosol GO:0097553 9.54 GRIN2B GRIN1
16 dopamine transport GO:0015872 9.51 SLC6A3 SLC18A2
17 response to morphine GO:0043278 9.5 PPP1R1B GNAO1 DRD3
18 positive regulation of phosphatidylinositol biosynthetic process GO:0010513 9.43 HTR2C HTR2A
19 phospholipase C-activating serotonin receptor signaling pathway GO:0007208 9.4 HTR2C HTR2A
20 locomotory behavior GO:0007626 9.17 VPS13A SLC6A3 SLC18A2 PPP1R1B HTR2C GNAO1
21 behavioral response to cocaine GO:0048148 9.13 PPP1R1B HTR2A DRD3

Molecular functions related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ionotropic glutamate receptor activity GO:0004970 9.48 GRIN2B GRIN1
2 glycine binding GO:0016594 9.46 GRIN2B GRIN1
3 serotonin binding GO:0051378 9.43 HTR2C HTR2A
4 glutamate binding GO:0016595 9.4 GRIN2B GRIN1
5 D1 dopamine receptor binding GO:0031748 9.37 PPP1R1B DRD3
6 monoamine transmembrane transporter activity GO:0008504 9.32 SLC6A3 SLC18A2
7 NMDA glutamate receptor activity GO:0004972 9.26 GRIN2B GRIN1
8 glutamate-gated calcium ion channel activity GO:0022849 9.16 GRIN2B GRIN1
9 Gq/11-coupled serotonin receptor activity GO:0001587 8.96 HTR2C HTR2A
10 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding GO:0071886 8.62 HTR2C HTR2A

Sources for Lingual-Facial-Buccal Dyskinesia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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